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Q52803299-079E754B-19D4-4543-BFA2-F399D74E1758
Q52803299-079E754B-19D4-4543-BFA2-F399D74E1758
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52803299-079E754B-19D4-4543-BFA2-F399D74E1758
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
P2860
Q52803299-079E754B-19D4-4543-BFA2-F399D74E1758
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52803299-079E754B-19D4-4543-BFA2-F399D74E1758
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wasDerivedFrom
a080bd9c1e69b48046cbf44e93d3f66f5fcfa9df
P2860
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene